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mutLBSgeneDB |
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| Gene summary for POLI |
 Gene summary |
| Basic gene Info. | Gene symbol | POLI |
| Gene name | polymerase (DNA directed) iota | |
| Synonyms | RAD30B|RAD3OB | |
| Cytomap | UCSC genome browser: 18q21.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_007195.2, | |
| Description | DNA polymerase iotaRAD30 homolog Beta2polymerase (DNA-directed), iota | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605252 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000101751 | ||
| HPRD : 16094 | ||
| Vega : OTTHUMG00000132704 | ||
| Protein | UniProt: Q9UNA4 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_POLI | |
| BioGPS: 11201 | ||
| Pathway | NCI Pathway Interaction Database: POLI | |
| KEGG: POLI | ||
| REACTOME: POLI | ||
| Pathway Commons: POLI | ||
| Context | iHOP: POLI | |
| ligand binding site mutation search in PubMed: POLI | ||
| UCL Cancer Institute: POLI | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for POLI |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D331 | D331G | COAD | 2 | D59 | V58E | COAD | 1 | T90 | T90A | COAD | 1 | R372 | R373Q | COAD | 1 | R372 | R373L | LUAD | 1 | R382 | R382L | LUSC | 1 | C336 | S337L | SKCM | 1 | C336 | S338F | SKCM | 1 | S301 | I300S | UCEC | 1 | R372 | R372H | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for POLI |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | S301 | I300S | -1.6104712 | R372 | R372H | -1.3489364 | R372 | R373Q | -1.2985245 | D331 | D331G | -1.1099451 | T90 | T90A | -0.96410007 | R372 | R373L | -0.65089202 | D59 | V58E | -0.60528555 | C336 | S337L | -0.36989182 | R382 | R382L | -0.30831395 | C336 | S338F | -0.011730854 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for POLI from PDB |
| PDB ID | PDB title | PDB structure | 2MBB | Solution Structure of the human Polymerase iota UBM1-Ubiquitin Complex |  |
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| Differential gene expression and gene-gene network for POLI |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for POLI |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for POLI |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of POLI go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 1t3n | A | S301 | NUC | Nucleic Acids | 1zet | A | S301 | NUC | Nucleic Acids | 2alz | A | S301 | NUC | Nucleic Acids | 2dpi | A | S301 | NUC | Nucleic Acids | 2dpj | A | S301 | NUC | Nucleic Acids | 2fll | A | S301 | NUC | Nucleic Acids | 2fln | A | S301 | NUC | Nucleic Acids | 2flp | A | S301 | NUC | Nucleic Acids | 3epg | A | S301 | NUC | Nucleic Acids | 3epi | A | S301 | NUC | Nucleic Acids | 3g6v | A | S301 | NUC | Nucleic Acids | 3g6x | A | S301 | NUC | Nucleic Acids | 3g6y | A | S301 | NUC | Nucleic Acids | 3gv5 | B | S301 | NUC | Nucleic Acids | 3gv5 | D | S301 | NUC | Nucleic Acids | 3gv7 | B | S301 | NUC | Nucleic Acids | 3gv8 | B | S301 | NUC | Nucleic Acids | 3h40 | A | S301 | NUC | Nucleic Acids | 3h4b | A | S301 | NUC | Nucleic Acids | 3h4d | A | S301 | NUC | Nucleic Acids | 3ngd | A | S301 | NUC | Nucleic Acids | 3osn | A | S301 | NUC | Nucleic Acids | 3q8p | B | S301 | NUC | Nucleic Acids | 3q8q | B | S301 | NUC | Nucleic Acids | 3q8r | B | S301 | NUC | Nucleic Acids | 3q8s | B | S301 | NUC | Nucleic Acids | 4ebc | A | S301 | NUC | Nucleic Acids | 4ebd | A | S301 | NUC | Nucleic Acids | 4ebe | A | S301 | NUC | Nucleic Acids | 4eyh | B | S301 | NUC | Nucleic Acids | 4eyi | B | S301 | NUC | Nucleic Acids | 4fs1 | A | S301 | NUC | Nucleic Acids | 4fs2 | A | S301 |
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| Conservation information for LBS of POLI |
| Multiple alignments for Q9UNA4 in multiple species |
| LBS | AA sequence | # species | Species |
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